RESUMEN
This study aimed to evaluate available volume status assessment tools in nephrotic syndrome (NS). Sixty children with INS were subdivided into hypovolemic and nonhypovolemic groups based on fractional excretion of sodium (FeNa%); all were studied for inferior vena cava collapsibility index (IVCCI), plasma atrial natriuretic peptide (ANP), and body composition monitor (BCM). Forty-four patients had nonhypovolemic and 16 had hypovolemic states. ANP did not difer between both groups. IVCCI was higher in hypovolemic group (p<0.001) with sensitivity 87.5% and specifcity 81.8% for hypovolemia detection, while BCM overhydration (BCM-OH) values were higher in nonhypovolemic group (p=0.04) with sensitivity=68.2% and specifcity=75% for detection of hypervolemia. FeNa% showed negative correlation with IVCCI (r= ?0.578, p<0.001) and positive correlation with BCM-OH (r=0.33, p=0.018), while FeNa% showed nonsignifcant correlation to ANP concentration. IVCCI is a reliable tool for evaluating volume status in NS and is superior to BCM.
RESUMEN
OBJECTIVE: To uncover the frequency and the spectrum of NPHS2 mutations in Egyptian children with non familial steroid-resistant nephrotic syndrome (SRNS). METHODS: Sixteen patients were screened by PCR-single-strand conformation polymorphism analysis of NPHS2 gene followed by direct sequencing. RESULTS: NPHS2 mutations were evident in four patients (25%) who were bearing four novel mutations including two frame shift mutations (R238fs and P45fs) and two missense mutations (I136L and F216Y). There were no phenotypic or histological characteristics of patients bearing NPHS2 mutations, apart from the earlier onset of the disease, compared to those who were not bearing mutations. CONCLUSION: NPHS2 mutations are prevalent in Egyptian children with non-familial SRNS and this may in part explain the less favorable prognosis reported in these patients.